Incidental Mutation 'IGL01344:Eps15l1'
ID 75003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eps15l1
Ensembl Gene ENSMUSG00000006276
Gene Name epidermal growth factor receptor pathway substrate 15-like 1
Synonyms Eps15-rs, 9830147J04Rik, Eps15R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL01344
Quality Score
Status
Chromosome 8
Chromosomal Location 73094843-73175304 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 73136169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163643] [ENSMUST00000212121] [ENSMUST00000212590]
AlphaFold Q60902
Predicted Effect probably null
Transcript: ENSMUST00000163643
SMART Domains Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276

DomainStartEndE-ValueType
EH 8 103 1.45e-21 SMART
EFh 52 80 6.56e0 SMART
EH 120 214 6.1e-47 SMART
EFh 163 191 4.35e-2 SMART
low complexity region 241 255 N/A INTRINSIC
EH 266 362 5.08e-44 SMART
EFh 276 304 1.09e0 SMART
coiled coil region 381 564 N/A INTRINSIC
internal_repeat_2 615 656 1.56e-6 PROSPERO
low complexity region 661 678 N/A INTRINSIC
low complexity region 701 722 N/A INTRINSIC
low complexity region 728 743 N/A INTRINSIC
low complexity region 746 764 N/A INTRINSIC
low complexity region 775 790 N/A INTRINSIC
internal_repeat_2 809 839 1.56e-6 PROSPERO
low complexity region 840 853 N/A INTRINSIC
UIM 863 882 3.98e1 SMART
UIM 889 907 3.76e2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000212121
Predicted Effect probably null
Transcript: ENSMUST00000212590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212950
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,020 (GRCm39) probably benign Het
Aak1 A G 6: 86,923,139 (GRCm39) K237R possibly damaging Het
Antxrl A C 14: 33,797,554 (GRCm39) M510L probably benign Het
Bdp1 T C 13: 100,214,588 (GRCm39) D417G probably benign Het
C3 T G 17: 57,531,880 (GRCm39) N250T probably benign Het
Cacna2d1 T A 5: 16,575,629 (GRCm39) I1073K probably benign Het
Ccin A T 4: 43,984,069 (GRCm39) N159Y probably damaging Het
Cep76 T C 18: 67,756,467 (GRCm39) T455A possibly damaging Het
Chaf1a T A 17: 56,371,104 (GRCm39) V663E probably damaging Het
Chit1 T C 1: 134,079,052 (GRCm39) F454S probably damaging Het
Cimip2a A T 2: 25,110,345 (GRCm39) I86F possibly damaging Het
Clasp2 A G 9: 113,642,360 (GRCm39) probably null Het
Ctcfl G T 2: 172,936,527 (GRCm39) A615E possibly damaging Het
Edaradd T C 13: 12,493,371 (GRCm39) D107G probably damaging Het
Efl1 T C 7: 82,330,688 (GRCm39) probably benign Het
Fahd2a T C 2: 127,283,987 (GRCm39) K18E probably benign Het
Fbxl20 A T 11: 97,990,926 (GRCm39) C147* probably null Het
Gsap G T 5: 21,447,881 (GRCm39) probably null Het
Gtse1 A T 15: 85,746,267 (GRCm39) probably null Het
Kcp A T 6: 29,498,950 (GRCm39) probably null Het
Llgl2 A G 11: 115,742,019 (GRCm39) D687G probably benign Het
Mcpt8 T A 14: 56,321,402 (GRCm39) I21F probably damaging Het
Met C A 6: 17,547,031 (GRCm39) S888Y probably benign Het
Mrtfa T C 15: 80,900,503 (GRCm39) T663A probably damaging Het
Ngf A G 3: 102,427,628 (GRCm39) T130A probably benign Het
Otud7b T A 3: 96,058,297 (GRCm39) probably benign Het
Preb C T 5: 31,113,388 (GRCm39) V349M probably damaging Het
Prmt1 G T 7: 44,627,059 (GRCm39) probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Ptprt T A 2: 161,393,737 (GRCm39) D1209V probably damaging Het
Rigi G A 4: 40,208,883 (GRCm39) T698I probably damaging Het
Sh3bp4 A G 1: 89,080,958 (GRCm39) N925S probably benign Het
Skint3 T A 4: 112,147,519 (GRCm39) M414K possibly damaging Het
Skor1 A T 9: 63,049,560 (GRCm39) S787R possibly damaging Het
Slc12a7 T A 13: 73,940,856 (GRCm39) I288N probably damaging Het
Smg1 A G 7: 117,790,059 (GRCm39) probably benign Het
Tpp2 C T 1: 44,022,422 (GRCm39) T940I probably benign Het
Trappc11 A T 8: 47,972,739 (GRCm39) I278N probably damaging Het
Umodl1 G A 17: 31,215,238 (GRCm39) V1021I probably damaging Het
Usp24 T C 4: 106,236,582 (GRCm39) S1059P possibly damaging Het
Other mutations in Eps15l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Eps15l1 APN 8 73,138,682 (GRCm39) nonsense probably null
IGL01316:Eps15l1 APN 8 73,143,258 (GRCm39) missense possibly damaging 0.66
IGL01918:Eps15l1 APN 8 73,121,756 (GRCm39) missense possibly damaging 0.49
IGL01982:Eps15l1 APN 8 73,132,919 (GRCm39) missense probably benign 0.28
IGL02305:Eps15l1 APN 8 73,140,853 (GRCm39) missense probably null 1.00
IGL02939:Eps15l1 APN 8 73,138,606 (GRCm39) splice site probably benign
IGL02951:Eps15l1 APN 8 73,112,240 (GRCm39) missense probably benign 0.19
R0025:Eps15l1 UTSW 8 73,135,341 (GRCm39) splice site probably benign
R0025:Eps15l1 UTSW 8 73,135,341 (GRCm39) splice site probably benign
R0030:Eps15l1 UTSW 8 73,126,894 (GRCm39) missense probably benign 0.03
R0030:Eps15l1 UTSW 8 73,126,894 (GRCm39) missense probably benign 0.03
R0799:Eps15l1 UTSW 8 73,099,929 (GRCm39) missense probably damaging 0.99
R1300:Eps15l1 UTSW 8 73,145,746 (GRCm39) missense probably damaging 0.99
R2131:Eps15l1 UTSW 8 73,140,712 (GRCm39) missense probably benign 0.05
R2132:Eps15l1 UTSW 8 73,140,712 (GRCm39) missense probably benign 0.05
R2133:Eps15l1 UTSW 8 73,140,712 (GRCm39) missense probably benign 0.05
R3693:Eps15l1 UTSW 8 73,152,904 (GRCm39) splice site probably benign
R4072:Eps15l1 UTSW 8 73,134,128 (GRCm39) missense probably damaging 1.00
R4074:Eps15l1 UTSW 8 73,134,128 (GRCm39) missense probably damaging 1.00
R4076:Eps15l1 UTSW 8 73,134,128 (GRCm39) missense probably damaging 1.00
R4485:Eps15l1 UTSW 8 73,153,531 (GRCm39) missense possibly damaging 0.78
R4592:Eps15l1 UTSW 8 73,095,238 (GRCm39) missense probably damaging 0.96
R4606:Eps15l1 UTSW 8 73,127,760 (GRCm39) missense possibly damaging 0.69
R4981:Eps15l1 UTSW 8 73,132,833 (GRCm39) critical splice donor site probably null
R5496:Eps15l1 UTSW 8 73,136,619 (GRCm39) missense probably benign 0.00
R5502:Eps15l1 UTSW 8 73,132,836 (GRCm39) splice site probably null
R5682:Eps15l1 UTSW 8 73,125,592 (GRCm39) nonsense probably null
R6326:Eps15l1 UTSW 8 73,095,278 (GRCm39) nonsense probably null
R6384:Eps15l1 UTSW 8 73,122,554 (GRCm39) critical splice donor site probably null
R7305:Eps15l1 UTSW 8 73,126,878 (GRCm39) missense probably benign
R7500:Eps15l1 UTSW 8 73,136,634 (GRCm39) missense probably damaging 1.00
R7732:Eps15l1 UTSW 8 73,134,820 (GRCm39) missense probably damaging 1.00
R8980:Eps15l1 UTSW 8 73,127,734 (GRCm39) missense probably benign 0.00
R9065:Eps15l1 UTSW 8 73,145,762 (GRCm39) nonsense probably null
R9238:Eps15l1 UTSW 8 73,095,274 (GRCm39) missense probably damaging 1.00
Z1088:Eps15l1 UTSW 8 73,140,745 (GRCm39) missense probably damaging 0.99
Z1177:Eps15l1 UTSW 8 73,135,281 (GRCm39) missense probably benign 0.37
Z1177:Eps15l1 UTSW 8 73,126,922 (GRCm39) critical splice acceptor site probably null
Posted On 2013-10-07